Published online Apr 6, 2023. doi: 10.12998/wjcc.v11.i10.2254
Peer-review started: October 13, 2022
First decision: December 13, 2022
Revised: January 16, 2023
Accepted: February 15, 2023
Article in press: February 15, 2023
Published online: April 6, 2023
Processing time: 167 Days and 22.9 Hours
Neonatal hyperinsulinism can result from perinatal stress, genetic disorders, or syndromes, which can lead to persistent or intractable hypoglycemia in newborns. Mutations in the ABCC8 gene result in abnormal functioning of potassium channel proteins in pancreatic β-cells, leading to an overproduction of insulin and congenital hyperinsulinemia.
We report a case of a high-birth-weight infant with postnatal hypoglycemia and hyperinsulinemia, whose mother had pregestational diabetes mellitus with poor glycemic control and whose sister had a similar history at birth. Whole-exome sequencing revealed a new mutation in the ABCC8 gene in exon 8 (c.1257T>G), which also occurred in his sister and mother; thus, the patient was diagnosed with neonatal hyperinsulinism with an ABCC8 mutation. With oral diazoxide treatment, the child’s blood glucose returned to normal, and the pediatrician gradually discontinued treatment because of the child’s good growth and development.
We report a new mutation locus in the ABCC8 gene. This mutation locus warrants attention for genetic disorders and long-term prognoses of hypoglycemic children.
Core Tip: Neonatal hyperinsulinemia can have multiple causes. Persistent hypoglycemia caused by a genetic mutation is difficult to correct by conventional glucose and hydrocortisone infusion treatments, which may lead to adverse outcomes. In this case, the newborn had a family history of hypoglycemia and hyperinsulinism, was exposed to perinatal stress, and exhibited a mutation locus in the ABCC8 gene in exon 8 (c.1257T>G), which has not been previously reported. With diazoxide treatment, the child recovered well, and family genetic examinations showed a good prognosis.